Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric Neurology

por Kadlubowska, Magda K., Schrauwen, Isabelle
Publicado 2022

Advances in Molecular Genetics and the Molecular Biology of Deafness

por Nishio, Shin-ya, Schrauwen, Isabelle, Moteki, Hideaki, Azaiez, Hela
Publicado 2016

Targeted Resequencing of Otosclerosis Patients from Different Populations Replicates Results from a Previous Genome-Wide Association Study

por Tavernier, Lisse J. M., Vanpoucke, Thomas, Schrauwen, Isabelle, Van Camp, Guy, Fransen, Erik
Publicado 2022

A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes

por Lindquist, Nathan R., Appelbaum, Eric N., Acharya, Anushree, Vrabec, Jeffrey T., Leal, Suzanne M., Schrauwen, Isabelle
Publicado 2019

A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV

por Hussain, Shabir, Nawaz, Shoaib, Khan, Hammal, Acharya, Anushree, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M.
Publicado 2022

Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities

por Narayanan, Mohan, Ramsey, Keri, Grebe, Theresa, Schrauwen, Isabelle, Szelinger, Szabolcs, Huentelman, Matthew, Craig, David, Narayanan, Vinodh
Publicado 2015

A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus

por Qian, Tianwei, Chen, Chong, Li, Caihua, Gong, Qiaoyun, Liu, Kun, Wang, Gao, Schrauwen, Isabelle, Xu, Xun
Publicado 2021

Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus

por Qian, Tianwei, Gong, Qiaoyun, Shen, Hangqi, Li, Caihua, Wang, Gao, Xu, Xun, Schrauwen, Isabelle, Wang, Weijun
Publicado 2022

The genetic contribution of the X chromosome in age-related hearing loss

por Naderi, Elnaz, Cornejo-Sanchez, Diana M., Li, Guangyou, Schrauwen, Isabelle, Wang, Gao T., Dewan, Andrew T., Leal, Suzanne M.
Publicado 2023

A Novel Variant in VPS13B Underlying Cohen Syndrome

por Hussain, Abrar, Acharya, Anushree, Bharadwaj, Thashi, Genomics, University Of Washington Center For Mendelian, Leal, Suzanne M., Khaliq, Abdul, Mir, Asif, Schrauwen, Isabelle
Publicado 2023

Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment

por Schrauwen, Isabelle, Liaqat, Khurram, Schatteman, Isabelle, Bharadwaj, Thashi, Nasir, Abdul, Acharya, Anushree, Ahmad, Wasim, Van Camp, Guy, Leal, Suzanne M.
Publicado 2020

Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family

por Liaqat, Khurram, Hussain, Shabir, Acharya, Anushree, Nasir, Abdul, Bharadwaj, Thashi, Ansar, Muhammad, Basit, Sulman, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M.
Publicado 2022

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

por Schrauwen, Isabelle, Chakchouk, Imen, Acharya, Anushree, Liaqat, Khurram, Irfanullah, Nickerson, Deborah A., Bamshad, Michael J., Shah, Khadim, Ahmad, Wasim, Leal, Suzanne M.
Publicado 2018

Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders

por Kokkonen, Hannaleena, Siren, Auli, Määttä, Tuomo, Kamila Kadlubowska, Magda, Acharya, Anushree, Nouel‐Saied, Liz M., Leal, Suzanne M., Järvelä, Irma, Schrauwen, Isabelle
Publicado 2021

Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves

por Kari, Elina, Schrauwen, Isabelle, Llaci, Lorida, Fisher, Laurel M., Go, John L., Naymik, Marcus, Knowles, James A., Huentelman, Matthew J., Friedman, Rick A.
Publicado 2017

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

por Liaqat, Khurram, Hussain, Shabir, Bilal, Muhammad, Nasir, Abdul, Acharya, Anushree, Ali, Raja Hussain, Nawaz, Shoaib, Umair, Muhammad, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M.
Publicado 2019

Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant

por Bharadwaj, Thashi, Schrauwen, Isabelle, Acharya, Anushree, Nouel‐Saied, Liz M., Väisänen, Marja‐Leena, Kraatari, Minna, Rahikkala, Elisa, Jarvela, Irma, Kotimäki, Jouko, Leal, Suzanne M.
Publicado 2022

Correction: Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

por Liaqat, Khurram, Hussain, Shabir, Bilal, Muhammad, Nasir, Abdul, Acharya, Anushree, Ali, Raja Hussain, Nawaz, Shoaib, Umair, Muhammad, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M.
Publicado 2021

A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss

por Kari, Elina, Llaci, Lorida, Go, John L., Naymik, Marcus, Knowles, James A., Leal, Suzanne M., Rangasamy, Sampath, Huentelman, Matthew J., Friedman, Rick A., Schrauwen, Isabelle
Publicado 2019

ESHRD: deconvolution of brain homogenate RNA expression data to identify cell-type-specific alterations in Alzheimer’s disease

por Piras, Ignazio S., Bleul, Christiane, Talboom, Joshua S., De Both, Matthew D., Schrauwen, Isabelle, Halliday, Glenda, Myers, Amanda J., Serrano, Geidy E., Beach, Thomas G., Huentelman, Matthew J.
Publicado 2020